Hyperinsulinism Congenital
Mostrando 1-3 de 3 artigos, teses e dissertações.
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1. Hiperinsulinismo congênito em crianças brasileiras: histopatologia, proliferação das células do pâncreas e genética dos canais K+ / ATP / Congenital hyperinsulinismin in brazilian neonates: histopathology, cells proliferation and KATP channels genes
Congenital hyperinsulinism (CHI) is a rare pancreatic endocrine cell disease which most severe cases are found to be, at least in half of patients, associated with genetic defects in the -cell KATP channels. The aim of this study was to evaluate eleven Brazilian patients diagnosed, by standard criteria, as CHI non responsive to clinical therapy, and submitte
Publicado em: 2009
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2. Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.
Congenital hyperinsulinism, or persistent hyperinsulinemic hypoglycemia of infancy (PHHI), is a glucose metabolism disorder characterized by unregulated secretion of insulin and profound hypoglycemia. From a morphological standpoint, there are two types of histopathological lesions, a focal adenomatous hyperplasia of islet cells of the pancreas in approximat
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3. Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1
ATP-sensitive potassium channels play a major role in linking metabolic signals to the exocytosis of insulin in the pancreatic β cell. These channels consist of two types of protein subunit: the sulfonylurea receptor SUR1 and the inward rectifying potassium channel Kir6.2. Mutations in the genes encoding these proteins are the most common cause of congenita
American Society for Clinical Investigation.